MFAP4
microfibril associated protein 4
Summary
This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2233083 | 17:19,286,463 | C/T | synonymous variant | — |
| rs1042865 | 17:19,286,605 | C/T | — | — |
| rs1054206 | 17:19,287,419 | G/T | — | — |
| rs771079046 | 17:19,287,782 | C/T | — | uncertain significance |
| rs774853214 | 17:19,287,974 | C/T | — | uncertain significance |
| rs553225927 | 17:19,287,978 | C/T | — | uncertain significance |
| rs1406206767 | 17:19,288,466 | C/T | — | uncertain significance |
| rs2544158659 | 17:19,288,520 | T/A | — | uncertain significance |
| rs753059313 | 17:19,288,528 | A/G | — | uncertain significance |
| rs150306319 | 17:19,289,634 | C/T | — | uncertain significance |
| rs2544160514 | 17:19,289,646 | T/G | — | uncertain significance |
| rs368593393 | 17:19,290,088 | C/T | — | uncertain significance |
| rs1032481995 | 17:19,290,132 | A/G | — | uncertain significance |
| rs535893515 | 17:19,290,141 | G/C | — | uncertain significance |
| rs1913068218 | 17:19,290,360 | C/G | — | uncertain significance |
| rs1281885381 | 17:19,290,361 | A/G | — | uncertain significance |
| rs146612211 | 17:19,290,370 | C/A | — | uncertain significance |
| rs2544162206 | 17:19,290,388 | C/T | — | uncertain significance |
| rs2544162249 | 17:19,290,413 | G/A | — | uncertain significance |
| rs1377144025 | 17:19,290,422 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.